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Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+558 more
Copy number loss
See cases
GPathogenic
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GBenign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GBenign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GBenign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GBenign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GBenign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
(F164Y)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GConflicting classifications of pathogenicity
NDUFAF4
(F159S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFAF4
(S151F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NDUFAF4
Single nucleotide variant
(synonymous variant)
Mitochondrial complex 1 deficiency, nuclear type 15
+2 more
GBenign
NDUFAF4
(Q140R)
Indel
(missense variant)
not provided
GUncertain significance
NDUFAF4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
NDUFAF4
(V117A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFAF4
(V117G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFAF4
(S115C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFAF4
(K97E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFAF4
(P96L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFAF4
(P96T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFAF4
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
NDUFAF4
(E92K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFAF4
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GConflicting classifications of pathogenicity
NDUFAF4
(P90L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFAF4
(P90S)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFAF4
Duplication
(intron variant)
not provided
GBenign
NDUFAF4
Duplication
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 15
+2 more
GBenign/Likely benign
NDUFAF4
Deletion
(intron variant)
not provided
GBenign
NDUFAF4
Insertion
(intron variant)
not provided
GLikely benign
NDUFAF4
Insertion
(intron variant)
not provided
GBenign
NDUFAF4
Microsatellite
(intron variant)
not provided
GLikely benign
NDUFAF4
(Q80H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFAF4
(Q80K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NDUFAF4
(P75A)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
(V68M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFAF4
(K66R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
NDUFAF4
(L65P)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
GPathogenic
NDUFAF4
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
NDUFAF4
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GConflicting classifications of pathogenicity
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFAF4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFAF4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NDUFAF4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC129996857, NDUFAF4
(A30S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129996857, NDUFAF4
(S28C)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 15
GUncertain significance
LOC129996857, NDUFAF4
(M25T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFAF4, LOC129996857
(K24E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129996857, NDUFAF4
(I22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129996857, NDUFAF4
(E21V)
Single nucleotide variant
(missense variant)
not provided
GBenign
LOC129996857, NDUFAF4
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
GUncertain significance
LOC129996857, NDUFAF4
(R20Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC129996857, NDUFAF4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129996857, NDUFAF4
(L14I)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 15
+1 more
GBenign/Likely benign
LOC129996857, NDUFAF4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFAF4, LOC129996857
(R7L)
Indel
(missense variant)
not specified
GUncertain significance
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